DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Blepharoptosis ×

Variants associated to the Gene: BRAF ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		32
rs121913378	BRAF	0.776	0.280	7	140753337	missense variant	C/A;G;T	snv			6